Publications:

mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: ADA: E217K

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: ADA: 649G>A

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

First Occurrence of Plasmablastic Lymphoma in Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease Patient and Review of the Literature.

Frontiers In Immunology

Migliavacca, Maddalena M; Assanelli, Andrea A; Ponzoni, Maurilio M; Pajno, Roberta R; Barzaghi, Federica F; Giglio, Fabio F; Ferrua, Francesca F; Frittoli, Marta M; Brigida, Immacolata I; Dionisio, Francesca F; Nicoletti, Roberto R; Casiraghi, Miriam M; Roncarolo, Maria Grazia MG; Doglioni, Claudio C; Peccatori, Jacopo J; Ciceri, Fabio F; Cicalese, Maria Pia MP; Aiuti, Alessandro A

Publication Date: 2018

Variant appearance in text: ADA: E217K

PubMed Link: 29456531

Variant Present in the following documents:

• Main text
• fimmu-09-00113.pdf

View BVdb publication page